RECRUITINGOBSERVATIONAL
Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease
Diagnostic and Clinical Characterization of Patients With Unusual Genetic Disorders of the Airways
About This Trial
The overall short-term goals of this project include the following: 1) identify the genes that are key to the function of respiratory cilia to protect the normal lung; and 2) the effects of genetic mutations that adversely affect ciliary function and cause primary ciliary dyskinesia (PCD), which results in life-shortening lung disease. The long-term goal of this project is to develop better understanding of the underlying genetic variability that adversely modifies ciliary function, and predisposes to common airway diseases, such as asthma and chronic obstructive pulmonary disease.
Who May Be Eligible (Plain English)
Who May Qualify:
- Patients who have a high suspicion for the diagnosis of PCD, based on clinical features
Healthy Volunteers who have a family member with confirmed PCD.
Always talk to your doctor about whether this trial is right for you.
Original Eligibility Criteria
View original clinical language
Inclusion Criteria:
* Patients who have a high suspicion for the diagnosis of PCD, based on clinical features
Healthy Volunteers who have a family member with confirmed PCD.
Locations (1)
The University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States